Embedded Files
The Enzyme
The Enzyme
⬅️ the β -barrel domain of transglutaminase 1
Entry - *190195 - TRANSGLUTAMINASE 1; TGM1 - OMIM. (n.d.). https://www.omim.org/entry/190195
Eckert, R. L., Sturniolo, M. T., Broome, A., Ruse, M., & Rorke, E. A. (2005). Transglutaminase function in epidermis. Journal of Investigative Dermatology, 124(3), 481–492. https://doi.org/10.1111/j.0022-202x.2005.23627.x
Kim, I. G., McBride, O. W., Wang, M., Kim, S. Y., Idler, W. W., & Steinert, P. M. (1992). Structure and organization of the human transglutaminase 1 gene. Journal of Biological Chemistry, 267(11), 7710–7717. https://doi.org/10.1016/s0021-9258(18)42573-2
The Epidermis
The Epidermis
⬅️ depiction of the different cell types present in the different layers of the epidermis.
Murphrey, M. B. (2022, November 14). Histology, Stratum corneum. StatPearls - NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK513299/
Kalinin, A. E., Marekov, L. N., & Steinert, P. M. (2001). Assembly of the epidermal cornified cell envelope. Journal of Cell Science, 114(17), 3069–3070. https://doi.org/10.1242/jcs.114.17.3069
Suzuki, M., Ohno, Y., & Kihara, A. (2022). Whole picture of human stratum corneum ceramides, including the chain-length diversity of long-chain bases. Journal of Lipid Research, 63(7), 100235. https://doi.org/10.1016/j.jlr.2022.100235
Keratinocytes
Keratinocytes
⬆️ drawing of the differentiation journey keratinocytes take from the stratum basale to the stratum corneum. Proteins expressed in each layer are specified as well.
Eckert, R. L., Sturniolo, M. T., Broome, A., Ruse, M., & Rorke, E. A. (2005). Transglutaminase function in epidermis. Journal of Investigative Dermatology, 124(3), 481–492. https://doi.org/10.1111/j.0022-202x.2005.23627.x
Bikle, D. D., Xie, Z., & Tu, C. (2012). Calcium regulation of keratinocyte differentiation. Expert Review of Endocrinology & Metabolism, 7(4), 461–472. https://doi.org/10.1586/eem.12.34
Pathologies
Pathologies
⬅️ This shows all the mutations discussed in this review, and their location within the gene.
Herman, M. L., Farasat, S. M., Steinbach, P., Wei, M. H., Touré, O., Fleckman, P., Blake, P. W., Bale, S. J., & Toro, J. R. (2009). Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1. Human Mutation, 30(4), 537–547. https://doi.org/10.1002/humu.20952
Research identifies new mechanism by which TGM1 mutations may cause ichthyosis | Foundation for Ichthyosis (FIRST). (n.d.). First Skin Foundation. https://www.firstskinfoundation.org/research-identifies-new-mechanism-by-which-tgm1-mutations-may-cause-ichthyosis-2010
Gülaşı, S. (2016). Congenital ichthyosis: a case treated successfully with Acitretin. Iranian Journal of Pediatrics, In Press(In Press). https://doi.org/10.5812/ijp.2442
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